Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03244:Mbip'

414361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbip

Ensembl Gene

ENSMUSG00000021028

Gene Name

MAP3K12 binding inhibitory protein 1

Synonyms

4933408E06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL03244

Quality Score

Status

Chromosome

Chromosomal Location

56375091-56392681 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 56384547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021416] [ENSMUST00000021416] [ENSMUST00000218118]

AlphaFold

Q99LQ1

Predicted Effect

probably null
Transcript: ENSMUST00000021416

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
coiled coil region	311	335	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000021416

SMART Domains

Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
coiled coil region	311	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218321

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aoc1	T	C	6: 48,882,756 (GRCm39)	Y233H	possibly damaging	Het
Apaf1	A	T	10: 90,885,211 (GRCm39)		probably benign	Het
Asah2	T	C	19: 31,964,342 (GRCm39)	Y696C	probably damaging	Het
Atp8b3	A	T	10: 80,370,292 (GRCm39)	D112E	probably damaging	Het
B3gat3	T	C	19: 8,903,215 (GRCm39)	Y191H	probably damaging	Het
Capns2	T	C	8: 93,628,738 (GRCm39)	I209T	probably damaging	Het
Ccnl2	T	C	4: 155,905,479 (GRCm39)	I303T	probably benign	Het
Cdk5rap2	A	T	4: 70,199,672 (GRCm39)	S817R	probably benign	Het
Cep57	A	T	9: 13,729,683 (GRCm39)	L36*	probably null	Het
Cers4	T	A	8: 4,566,878 (GRCm39)	V60E	probably damaging	Het
Ces2e	T	C	8: 105,655,451 (GRCm39)	Y125H	probably benign	Het
Cyp4f18	T	C	8: 72,742,489 (GRCm39)	E497G	probably benign	Het
Ddx24	A	T	12: 103,383,864 (GRCm39)	M575K	possibly damaging	Het
Dmxl2	A	T	9: 54,323,655 (GRCm39)	V1243E	probably damaging	Het
Elf2	A	T	3: 51,165,193 (GRCm39)	Y270*	probably null	Het
Ep400	A	G	5: 110,875,429 (GRCm39)	L844S	unknown	Het
F13a1	A	T	13: 37,172,870 (GRCm39)	I170N	possibly damaging	Het
Gm16506	T	A	14: 43,961,603 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,653,797 (GRCm39)	F463L	probably damaging	Het
H2-M10.2	A	T	17: 36,596,463 (GRCm39)	N127K	probably benign	Het
Lrrc49	T	C	9: 60,495,140 (GRCm39)	Y691C	probably damaging	Het
Or9k2	T	A	10: 129,998,269 (GRCm39)	K309*	probably null	Het
Plod1	C	T	4: 148,007,580 (GRCm39)		probably null	Het
Primpol	A	G	8: 47,039,475 (GRCm39)	W382R	probably damaging	Het
Rufy2	A	G	10: 62,840,483 (GRCm39)	E418G	probably benign	Het
Samm50	T	C	15: 84,098,341 (GRCm39)	V460A	probably benign	Het
Senp2	T	C	16: 21,859,329 (GRCm39)	V460A	probably damaging	Het
Simc1	A	G	13: 54,698,442 (GRCm39)	H453R	probably benign	Het
Slc22a22	A	G	15: 57,112,948 (GRCm39)		probably benign	Het
Spag1	A	T	15: 36,234,529 (GRCm39)	D763V	probably benign	Het
Thsd7a	T	A	6: 12,504,167 (GRCm39)		probably benign	Het
Tppp	G	T	13: 74,169,535 (GRCm39)	V92F	possibly damaging	Het
Vmn1r32	G	A	6: 66,530,489 (GRCm39)	L96F	probably damaging	Het
Vmn2r53	C	A	7: 12,340,435 (GRCm39)	A13S	probably damaging	Het
Vmn2r75	G	A	7: 85,820,933 (GRCm39)		probably benign	Het
Zfp750	C	A	11: 121,404,513 (GRCm39)	G121*	probably null	Het

Other mutations in Mbip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Mbip	APN	12	56,377,027 (GRCm39)	missense	probably benign	0.35
IGL02627:Mbip	APN	12	56,382,590 (GRCm39)	missense	probably benign	0.06
IGL03387:Mbip	APN	12	56,382,597 (GRCm39)	missense	probably damaging	1.00
R0891:Mbip	UTSW	12	56,387,242 (GRCm39)	missense	possibly damaging	0.93
R3119:Mbip	UTSW	12	56,392,488 (GRCm39)	missense	probably benign	0.00
R5254:Mbip	UTSW	12	56,384,228 (GRCm39)	missense	probably damaging	0.99
R5584:Mbip	UTSW	12	56,382,647 (GRCm39)	missense	probably damaging	1.00
R5853:Mbip	UTSW	12	56,382,662 (GRCm39)	missense	probably damaging	1.00
R6642:Mbip	UTSW	12	56,389,191 (GRCm39)	intron	probably benign
R6808:Mbip	UTSW	12	56,384,383 (GRCm39)	splice site	probably null
R7231:Mbip	UTSW	12	56,384,547 (GRCm39)	critical splice donor site	probably null
R7716:Mbip	UTSW	12	56,392,473 (GRCm39)	missense	probably benign	0.00
R8472:Mbip	UTSW	12	56,377,054 (GRCm39)	critical splice acceptor site	probably null
Z1176:Mbip	UTSW	12	56,387,170 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02